High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations

Familial adenomatous polyposis is most frequently caused by pathogenic variants in either the APC gene or the MUTYH gene. The detection rate of pathogenic variants depends on the severity of the phenotype and sensitivity of the screening method, including sensitivity for mosaic variants. For 171 pat...

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Detalles Bibliográficos
Autores principales: Out, Astrid A., van Minderhout, Ivonne J. H. M., van der Stoep, Nienke, van Bommel, Lysette S. R., Kluijt, Irma, Aalfs, Cora, Voorendt, Marsha, Vossen, Rolf H. A. M., Nielsen, Maartje, Vasen, Hans F. A., Morreau, Hans, Devilee, Peter, Tops, Carli M. J., Hes, Frederik J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2015
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430602/
https://www.ncbi.nlm.nih.gov/pubmed/25604157
http://dx.doi.org/10.1007/s10689-015-9780-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430602/
https://www.ncbi.nlm.nih.gov/pubmed/25604157
http://dx.doi.org/10.1007/s10689-015-9780-5

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